NM_006949.4:c.1034C>T

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  2. NM_006949.4:c.1034C>T

HGVS Expressions

  • NG_016709.1:g.11068C>T
  • NM_006949.4:c.1034C>T
  • NP_008880.2:p.Thr345Met
  • NC_000019.10:g.7643172C>T

Associated Genes

Syntaxin-Binding Protein 2
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Clinvar Clinical Significance

Benign, Likely Benign

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

117761837

Clinvar

194241

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
249100.5Lebanon1Uncertain SignificanceUmar et al, 2020
249100.25Lebanon1Uncertain SignificanceFamilial Mediterranean FeverUmar et al, 2020
249100.31Lebanon1Uncertain SignificanceFamilial Mediterranean FeverUmar et al, 2020
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Contributors

  • Sayeeda Hana: 03.02.2021

Edit History

  • Sayeeda Hana: 16.02.2021
  • Sayeeda Hana: 13.02.2021
  • Sayeeda Hana: 03.02.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.